Background: Pai syndrome (PS) is a rare regional developmental defect of the face, mainly characterized by the variable association of midline cleft of the upper lip (MCL), duplicated maxillary median frenulum, and midline facial cutaneous and midanterior alveolar process polyps.
Opitz G/BBB syndrome, also known as Opitz syndrome, G syndrome or BBB syndrome, is a rare genetic disorder that will affect physical structures along the midline of the body.
Orbital hypertelorism is a condition in which the position of the bones around the eyes is further to the side than normal. This causes the eyes to be too far apart, grossly deforming the appearance.
The term hypertelorism means an increased distance between two body parts.[1] Greg applied it for the eyes and termed it as “ocular hypertelorism” in 1924 to signify widely placed eyes.[2] He used interpupillary distance (IPD) to record its presence.
Affected PopulationsAn estimated population prevalence of Aarskog syndrome is equal to or slightly lower than to 1/25,000.
The asymmetric nasal tip results from the irregularly formed lower lateral cartilage on the cleft side. Due to the unopposed pull of the orbicularis oris muscle and the premaxillary ligament, the caudal nasal septum is deviated to the noncleft-side nostril.
The frontonasal process is a prominent structure in the earliest phases of facial development, and its formation is the result of an exquisitely sensitive signaling system that begins with the synthesis of retinoic acid in a localized region of ectoderm opposite the forebrain and continues with the action of shh
A bifid nasal tip is the name given to the shape of the nasal tip where a groove is present in the midline. There are a pair of cartilages which form the structure of the nasal tip .
Symptoms
- Bone pain, usually a mild to moderate dull ache.
- Swelling.
- Bone deformity.
- Bone fractures, particularly in the arms or legs.
- Curvature of leg bones.
Fibrous dysplasia is a chronic problem in which scar-like tissue grows in place of normal bone. It often results in one or more, of the following: Bone deformity. Brittle bones.
Fibrous dysplasia is a chronic disorder and is often progressive. Although the lesions may stabilize and stop growing, they do not disappear. Individual lesions may progress more rapidly in the polyostotic form of the condition and in growing children.
People living with fibrous dysplasia may have no signs or symptoms at all, but for others living with FD signs and symptoms may include: Fatigue, particularly in young children. Pain and weakness in the areas affected.
Facial dysmorphism includes all abnormalities of facial features that are usually associated with syndromic conditions. Detection is challenging considering the large phenotypic variability in human face. Thus isolated facial abnormalities must be evaluated, taking into account the facial characteristics of parents.
Patients with fibrous dysplasia who consult with their doctors are referred to an experienced orthopedic specialist like Dr. Allison who is best qualified to diagnose and treat the condition. Dr. Allison will order more tests to confirm the diagnosis and ascertain the extent of the disorder.
The range and severity of symptoms may vary greatly among affected individuals. In most cases, GCPS is inherited as an autosomal dominant trait.. (For more information on this disorder, choose “Greig” as your search term in the Rare Disease Database).
Fibrous dysplasia is a condition where primitive bone cells proliferate inside the bone, weakening its structure and causing pain and disability.
Fibrous dysplasia (FD) is a rare bone disorder. Bone affected by this disorder is replaced by abnormal scar-like (fibrous) connective tissue.
Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.
Polyostotic fibrous dysplasia is a form of fibrous dysplasia affecting more than one bone. Fibrous dysplasia is a disorder where bone is replaced by fibrous tissue, leading to weak bones, uneven growth, and deformity. McCune-Albright syndrome includes polyostotic fibrous dysplasia as part of its presentation.
